Canonical Allele Identifier: CA1998803472

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108307569_108307570delinsGT , CM000673.2:g.108307569_108307570delinsGT	GRCh38
NC_000011.9:g.108178296_108178297delinsGT , CM000673.1:g.108178296_108178297delinsGT	GRCh37
NC_000011.8:g.107683506_107683507delinsGT	NCBI36
NG_009830.1:g.89738_89739delinsGT , LRG_135:g.89738_89739delinsGT
NG_054724.1:g.167263_167264delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5675-328_5675-327delinsGT	ENSP00000388058.2:n.5675-328_5675-327delinsGT
ENST00000713593.1:c.*5146-328_*5146-327delinsGT	ENSP00000518889.1:n.*5146-328_*5146-327delinsGT
ENST00000278616.9:c.5675-328_5675-327delinsGT	ENSP00000278616.4:n.5675-328_5675-327delinsGT
ENST00000682286.1:n.431+87_431+88delinsGT
ENST00000683174.1:n.7159-328_7159-327delinsGT
ENST00000683524.1:n.899-328_899-327delinsGT
ENST00000684152.1:n.1389-328_1389-327delinsGT
ENST00000527805.6:c.*739-328_*739-327delinsGT	ENSP00000435747.2:n.*739-328_*739-327delinsGT
ENST00000675595.1:c.*739-328_*739-327delinsGT	ENSP00000502563.1:n.*739-328_*739-327delinsGT
ENST00000675843.1:c.5675-328_5675-327delinsGT MANE Select	ENSP00000501606.1:n.5675-328_5675-327delinsGT
ENST00000278616.8:c.5675-328_5675-327delinsGT	ENSP00000278616.4:n.5675-328_5675-327delinsGT
ENST00000452508.6:c.5675-328_5675-327delinsGT	ENSP00000388058.2:n.5675-328_5675-327delinsGT
ENST00000524792.5:n.1890-328_1890-327delinsGT
ENST00000529588.5:c.187-2591_187-2590delinsGT
ENST00000533690.5:n.1079-328_1079-327delinsGT
NM_000051.3:c.5675-328_5675-327delinsGT , LRG_135t1:c.5675-328_5675-327delinsGT	NP_000042.3:n.5675-328_5675-327delinsGT
XM_005271561.3:c.5675-328_5675-327delinsGT	XP_005271618.2:n.5675-328_5675-327delinsGT
XM_005271562.3:c.5675-328_5675-327delinsGT	XP_005271619.2:n.5675-328_5675-327delinsGT
XM_006718843.2:c.5675-328_5675-327delinsGT	XP_006718906.1:n.5675-328_5675-327delinsGT
XM_006718845.1:c.1631-328_1631-327delinsGT	XP_006718908.1:n.1631-328_1631-327delinsGT
XM_011542840.1:c.5675-328_5675-327delinsGT	XP_011541142.1:n.5675-328_5675-327delinsGT
XM_011542841.1:c.5675-328_5675-327delinsGT	XP_011541143.1:n.5675-328_5675-327delinsGT
XM_011542842.1:c.5510-328_5510-327delinsGT	XP_011541144.1:n.5510-328_5510-327delinsGT
XM_011542843.1:c.5675-328_5675-327delinsGT	XP_011541145.1:n.5675-328_5675-327delinsGT
XM_011542844.1:c.4631-328_4631-327delinsGT	XP_011541146.1:n.4631-328_4631-327delinsGT
XM_011542845.1:c.4367-328_4367-327delinsGT	XP_011541147.1:n.4367-328_4367-327delinsGT
XM_011542847.1:c.746-328_746-327delinsGT	XP_011541149.1:n.746-328_746-327delinsGT
NM_001351834.1:c.5675-328_5675-327delinsGT	NP_001338763.1:n.5675-328_5675-327delinsGT
XM_005271562.5:c.5675-328_5675-327delinsGT	XP_005271619.2:n.5675-328_5675-327delinsGT
XM_006718843.4:c.5675-328_5675-327delinsGT	XP_006718906.1:n.5675-328_5675-327delinsGT
XM_006718845.2:c.1631-328_1631-327delinsGT	XP_006718908.1:n.1631-328_1631-327delinsGT
XM_011542840.3:c.5675-328_5675-327delinsGT	XP_011541142.1:n.5675-328_5675-327delinsGT
XM_011542842.3:c.5510-328_5510-327delinsGT	XP_011541144.1:n.5510-328_5510-327delinsGT
XM_011542843.2:c.5675-328_5675-327delinsGT	XP_011541145.1:n.5675-328_5675-327delinsGT
XM_011542844.3:c.4631-328_4631-327delinsGT	XP_011541146.1:n.4631-328_4631-327delinsGT
XM_011542845.2:c.4367-328_4367-327delinsGT	XP_011541147.1:n.4367-328_4367-327delinsGT
XM_017017789.2:c.5675-328_5675-327delinsGT	XP_016873278.1:n.5675-328_5675-327delinsGT
XM_017017790.2:c.5675-328_5675-327delinsGT	XP_016873279.1:n.5675-328_5675-327delinsGT
XM_017017791.1:c.5675-328_5675-327delinsGT	XP_016873280.1:n.5675-328_5675-327delinsGT
XR_002957150.1:n.6275-328_6275-327delinsGT
NM_001351834.2:c.5675-328_5675-327delinsGT	NP_001338763.1:n.5675-328_5675-327delinsGT
NM_000051.4:c.5675-328_5675-327delinsGT MANE Select	NP_000042.3:n.5675-328_5675-327delinsGT